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Page 1
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: munnich a. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
A 1D imaging soft X-ray spectrometer for the small quantum systems instrument at the European XFEL.
Agåker M, Söderström J, Baumann TM, Englund CJ, Kjellsson L, Boll R, De Fanis A, Dold S, Mazza T, Montaño J, Münnich A, Mullins T, Ovcharenko Y, Rennhack N, Schmidt P, Senfftleben B, Turcato M, Usenko S, Meyer M, Nordgren J, Rubensson JE. Agåker M, et al. Among authors: munnich a. J Synchrotron Radiat. 2024 Sep 1;31(Pt 5):1264-1275. doi: 10.1107/S1600577524005988. Epub 2024 Jul 30. J Synchrotron Radiat. 2024. PMID: 39078692 Free PMC article.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: munnich a. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy.
Roux CJ, Dufeu-Berat CM, Hully M, Rotig A, Schiff M, De Lonlay P, Aubart M, Alison M, Jaroussie M, Levy R, Dangouloff-Ros V, Barcia G, Desguerre I, Munnich A, Gitiaux C, Boddaert N. Roux CJ, et al. Among authors: munnich a. Neurology. 2024 Jun;102(11):e209356. doi: 10.1212/WNL.0000000000209356. Epub 2024 May 16. Neurology. 2024. PMID: 38754044 No abstract available.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: munnich a. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32970. doi: 10.1002/ajmg.b.32970. Epub 2024 Mar 8. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
1,068 results